Canonical Allele Identifier: CA344035573

Gene: CRB1

Linked Data

• dbSNP Id: rs757342815
• gnomAD v2: 1-197446881-G-A
• gnomAD v3: 1-197477751-G-A
• gnomAD v4: 1-197477751-G-A
• MyVariant Identifiers: chr1:g.197446881G>A (hg19) ; chr1:g.197477751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477751G>A , CM000663.2:g.197477751G>A	GRCh38
NC_000001.10:g.197446881G>A , CM000663.1:g.197446881G>A	GRCh37
NC_000001.9:g.195713504G>A	NCBI36
NG_008483.1:g.214474G>A
NG_008483.2:g.281290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4093G>A MANE Select	ENSP00000356370.3:p.Ala1365Thr
ENST00000367399.6:c.3757G>A	ENSP00000356369.2:p.Ala1253Thr
ENST00000367400.7:c.4093G>A	ENSP00000356370.3:p.Ala1365Thr
ENST00000448952.1:c.327G>A	ENSP00000395407.1:n.327G>A
ENST00000484075.5:c.*204G>A	ENSP00000433932.1:n.*204G>A
ENST00000535699.5:c.4021G>A	ENSP00000438786.1:p.Ala1341Thr
ENST00000538660.5:c.2485G>A	ENSP00000438091.1:p.Ala829Thr
NM_001193640.1:c.3757G>A	NP_001180569.1:p.Ala1253Thr
NM_001257965.1:c.4021G>A	NP_001244894.1:p.Ala1341Thr
NM_001257966.1:c.2485G>A	NP_001244895.1:p.Ala829Thr
NM_201253.2:c.4093G>A	NP_957705.1:p.Ala1365Thr
NR_047563.1:n.4094G>A
NR_047564.1:n.4544G>A
XM_011509366.1:c.*198G>A	XP_011507668.1:n.*198G>A
XM_011509367.1:c.*72G>A	XP_011507669.1:n.*72G>A
XM_011509368.1:c.3511G>A	XP_011507670.1:p.Ala1171Thr
XM_011509369.1:c.2536G>A	XP_011507671.1:p.Ala846Thr
XM_011509369.2:c.2536G>A	XP_011507671.1:p.Ala846Thr
XM_017000851.1:c.3250G>A	XP_016856340.1:p.Ala1084Thr
XM_017000852.1:c.4228G>A	XP_016856341.1:p.Ala1410Thr
NM_201253.3:c.4093G>A MANE Select	NP_957705.1:p.Ala1365Thr
NM_001193640.2:c.3757G>A	NP_001180569.1:p.Ala1253Thr
NM_001257965.2:c.4021G>A	NP_001244894.1:p.Ala1341Thr
NR_047563.2:n.4046G>A
NR_047564.2:n.4496G>A
NM_001257966.2:c.2485G>A	NP_001244895.1:p.Ala829Thr